ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.406del (p.Glu136fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225207 SCV001397448 pathogenic Rett syndrome, congenital variant 2019-05-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FOXG1 gene (p.Glu136Serfs*56). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 354 amino acids of the FOXG1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with FOXG1-related conditions. This variant disrupts the C-terminus of the FOXG1 protein. Other variant(s) that disrupt this region (p.Ser468Leufs*20) have been determined to be pathogenic (PMID: 30525188). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.